1
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
2
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
3
|
(HPO:0004684)
|
Talipes valgus |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
4
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
5
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
6
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
8
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
9
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
10
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
11
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
12
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
13
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
14
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
16
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
17
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
18
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
19
|
(HPO:0001772)
|
Talipes equinovalgus |
|
|
|
|
7 / 7739
|
20
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
21
|
(OMIM)
|
Hypoplastic glenoid |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Hypoplastic acetabular roof |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Widened sacro-sciatic notch |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Tall, narrow ilia |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Proximal widening of ulna |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Oval or triangular-shaped tibia |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Normal hands |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Equinovalgus |
|
|
|
|
2 / 7739
|
29
|
(OMIM)
|
Normal tarsal |
|
|
|
|
3 / 7739
|
30
|
(OMIM)
|
Normal metatarsals |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Normal phalanges |
|
|
|
|
2 / 7739
|
32
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|